CHARGE Association is a very rare disorder, affecting about 1 in every 10,000 to 12,000 live births. We don't know how to prevent it. The only good thing about it is that it is quite rare. After a baby is born, the initial way to diagnose CHARGE is by the collection of defects the child was born with, so it is not always diagnosed immediately. There has been a genetic mutation discovered that is thought to be responsible for about 75% of CHARGE babies. CHARGE is an acronym, the letters standing for the six major birth defects found with it. To be labelled a CHARGE baby, the child must have 4 out of the 6 defects. The acronym breaks down as follows:
There are many many lesser birth defects that are commonly seen with CHARGE, but not used to diagnose it. Nick's deafness, swallowing difficulties and testosterone deficiency are some of them, but I am not even close to knowing most or all of them, so I'm not going to try to list them here.
My son, Nicholas, had coloboma in both eyes, as well as paralysis in the right side of his face, 2 heart murmurs, micropenis (very tiny penis) and misshapen ears. His size was fine, and we will never know if he was mentally retarded, though he was at high risk for it. Also, he had 2 small cysts in his brain, his retinas were detached leaving him irreparably blind, he had profound nerve deafness, he had difficulties swallowing and had a g-tube placed, he had "significant" acid reflux and had a nissen wrap done to correct that, and his micropenis was caused by insufficient testosterone. For more information, visit the CHARGE Syndrome Foundation home page here.
Tracheo/bronchomalacia is a disorder affecting the cartilage in the trachea and bronchi. (trachea is more commonly known as the windpipe, and the bronchi are the branches that lead from the trachea to the lungs) Insufficient cartilage in the airway causes it to be floppy, and when the affected person tries to breathe on their own, the airway starts to collapse. Again, they don't really know what causes this, they don't really have a way to treat it, other than pressure support from a ventilator. This was the option offered to us for Nicholas. Pressure support means that while the ventilator is not breathing for the affected person, it is providing constant air pressure to keep the airway open. The way they diagnosed the malacia with Nick was to "scope" his airway, sending a tiny camera down his throat, while he was sedated, to look at his airway. I would love to provide a link for you here to somewhere informative on the net, but in my research, I really didn't find any. My pediatrician had dealt with it before, and he, along with the ENT who did Nick's scope and the geneticist handling his case, were my main sources of information.
If you would like to talk to me about either of these conditions, or anything else you see on my page, or if you think I can help you find information or deal with the knowledge that someone you know has one or more of these conditions, please feel free to email me.
